Retinoblastoma history and symptoms: Difference between revisions
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{{CMG}}; {{AE}} {{Sahar}} {{Simrat}} | {{CMG}}; {{AE}} {{Sahar}} {{Simrat}} | ||
==Overview== | ==Overview== | ||
The hallmark of retinoblastoma is [[leukocoria]] which is an abnormal appearance of the [[retina]] as viewed through the [[pupil]], also known as amaurotic cat's eye reflex. | The [[hallmark]] of retinoblastoma is [[leukocoria]], which is an abnormal appearance of the [[retina]] as viewed through the [[pupil]], also known as amaurotic cat's eye reflex. Common [[symptoms]] of retinoblastoma include [[strabismus]] and [[proptosis]]. The [[clinical]] presentation depends on the [[Cancer staging|stage]] of the [[disease]]. | ||
==History and Symptoms== | ==History and Symptoms== | ||
===History=== | ===History=== | ||
*History of a patient with retinoblastoma may | *History of a [[patient]] with retinoblastoma may include the:<ref name="pmid8299091">{{cite journal |vauthors=Shields CL, Shields JA, Baez K, Cater JR, De Potter P |title=Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors |journal=Cancer |volume=73 |issue=3 |pages=692–8 |date=February 1994 |pmid=8299091 |doi= |url=}}</ref> | ||
**Perinatal history of: | **[[Perinatal period|Perinatal]] history of: | ||
***[[Pregnancy complications]] | ***[[Pregnancy complications]] | ||
***[[Prematurity|Early birth]] | ***[[Prematurity|Early birth]] | ||
***[[Low birth weight]] | ***[[Low birth weight]] | ||
***Use of oxygen | ***Use of [[oxygen]] | ||
**Personal history of: | **Personal history of: | ||
***Exposure to pets | ***Exposure to pets | ||
***Recent [[trauma]] | ***Recent [[trauma]] | ||
***[[Systemic | ***[[Systemic]] illness | ||
**[[Family history]] of: | **[[Family history]] of: | ||
***[[Genetic diseases|Genetic disease]] | ***[[Genetic diseases|Genetic disease]] | ||
***[[Blindness]] | ***[[Blindness]] | ||
***[[Enucleation|Eye surgery | ***[[Enucleation|Eye surgery in the setting of a tumor]] | ||
***[[Visual]] | ***[[Visual disturbance|Visual problems]] in the [[childhood]] ([[amblyopia]]) | ||
===Symptoms=== | ===Symptoms=== | ||
*Clinical [[Features (pattern recognition)|features]] of retinoblatoma are approximately the same in variable studies and the common findings are as follow:<ref name="pmid24792399">{{cite journal |vauthors=Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L |title=[Clinical features of retinoblastoma in Tunisia] |language=French |journal=J Fr Ophtalmol |volume=37 |issue=6 |pages=442–8 |date=June 2014 |pmid=24792399 |doi=10.1016/j.jfo.2014.01.009 |url=}}</ref><ref name="pmid14654593">{{cite journal |vauthors=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M |title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival |journal=Pediatrics |volume=112 |issue=6 Pt 1 |pages=1248–55 |date=December 2003 |pmid=14654593 |doi= |url=}}</ref><ref name="ShifaGezmu2017">{{cite journal|last1=Shifa|first1=Jemal Zeberga|last2=Gezmu|first2=Alemayehu Mekonnen|title=Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia|journal=Pan African Medical Journal|volume=28|year=2017|issn=1937-8688|doi=10.11604/pamj.2017.28.66.11199}}</ref> | *[[Clinical]] [[Features (pattern recognition)|features]] of retinoblatoma are approximately the same in variable studies and the common findings are as follow:<ref name="pmid24792399">{{cite journal |vauthors=Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L |title=[Clinical features of retinoblastoma in Tunisia] |language=French |journal=J Fr Ophtalmol |volume=37 |issue=6 |pages=442–8 |date=June 2014 |pmid=24792399 |doi=10.1016/j.jfo.2014.01.009 |url=}}</ref><ref name="pmid14654593">{{cite journal |vauthors=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M |title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival |journal=Pediatrics |volume=112 |issue=6 Pt 1 |pages=1248–55 |date=December 2003 |pmid=14654593 |doi= |url=}}</ref><ref name="ShifaGezmu2017">{{cite journal|last1=Shifa|first1=Jemal Zeberga|last2=Gezmu|first2=Alemayehu Mekonnen|title=Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia|journal=Pan African Medical Journal|volume=28|year=2017|issn=1937-8688|doi=10.11604/pamj.2017.28.66.11199}}</ref> | ||
**Abnormal appearance of the [[pupil]] ([[leukocoria]], also known as amaurotic cat's [[Red reflex|eye reflex]]) | **Abnormal appearance of the [[pupil]] ([[leukocoria]], also known as amaurotic cat's [[Red reflex|eye reflex]]) | ||
**Deviation of | **Deviation of the eye to one side ([[strabismus]]) (especially when the [[macula]] is involved) | ||
**Decreased [[vision]] | **Decreased [[vision]] | ||
**[[Painful]] [[red eye]] | **[[Painful]] [[red eye]] | ||
**[[Loss of vision]] | **[[Loss of vision]] | ||
*Presenting [[symptoms]] in adult onset of the [[tumor]] are insidious and | *Presenting [[symptoms]] in [[adult]] onset of the [[tumor]] are insidious and can include:<ref name="KhetanSengupta2016">{{cite journal|last1=Khetan|first1=Vikas|last2=Sengupta|first2=Sabyasachi|last3=Pan|first3=Utsab|title=Adult onset retinoblastoma|journal=Indian Journal of Ophthalmology|volume=64|issue=7|year=2016|pages=485|issn=0301-4738|doi=10.4103/0301-4738.190099}}</ref> | ||
**[[Vision loss]] | **[[Vision loss]] | ||
**[[Floater|Perception of shadows in visual field]] | **[[Floater|Perception of shadows in the visual field]] | ||
**[[Eye Pain|Pain]] and [[Red eye|redness]] | **[[Eye Pain|Pain]] and [[Red eye|redness]] | ||
[[File:Retinoblastoma leukocoria.jpeg |thumb|none|200px|T2 MRI showing retinoblastoma<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-leukocoria]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]] | [[File:Retinoblastoma leukocoria.jpeg |thumb|none|200px|T2 MRI showing retinoblastoma<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-leukocoria]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]] | ||
*Advanced and/or [[metastatic]] form of the [[tumor]] also presents with constitutional [[symptoms]] such as: | *Advanced and/or [[metastatic]] form of the [[tumor]] also presents with constitutional [[symptoms]], such as: | ||
**[[Weight loss]] | **[[Weight loss]] | ||
**[[Vomiting]] | **[[Vomiting]] | ||
**[[Headache]] | **[[Headache]] | ||
*Patients with retinoblastoma may also present with delay in [[developmental milestones]] and [[intellectual disability]] which may be perceived by their caregivers.<ref name="ClarkAvishay2015">{{cite journal|last1=Clark|first1=Robin D.|last2=Avishay|first2=Stefanie G.|title=Retinoblastoma: Genetic Counseling and Testing|year=2015|pages=77–88|doi=10.1007/978-3-662-43451-2_8}}</ref> | *[[Patient|Patients]] with retinoblastoma may also present with delay in [[developmental milestones]] and [[intellectual disability]] which may be perceived by their caregivers.<ref name="ClarkAvishay2015">{{cite journal|last1=Clark|first1=Robin D.|last2=Avishay|first2=Stefanie G.|title=Retinoblastoma: Genetic Counseling and Testing|year=2015|pages=77–88|doi=10.1007/978-3-662-43451-2_8}}</ref> | ||
**[[Intellectual disability]] may be the result of accompanying [[disease]] or with no clear reason. | **[[Intellectual disability]] may be the result of an accompanying [[disease]] or with no clear reason. | ||
**[[13q deletion syndrome|Chromosome 13q14 deletion]] may cause retinoblastoma and [[intellectual disability]]. | **[[13q deletion syndrome|Chromosome 13q14 deletion]] may cause retinoblastoma and [[intellectual disability]]. | ||
**Retinoblastoma has been also reported in a patient with [[Fragile-X Syndrome|Fragile x syndrome]]. | **Retinoblastoma has been also reported in a [[patient]] with [[Fragile-X Syndrome|Fragile x syndrome]]. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 20:35, 9 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[3] Simrat Sarai, M.D. [4]
Overview
The hallmark of retinoblastoma is leukocoria, which is an abnormal appearance of the retina as viewed through the pupil, also known as amaurotic cat's eye reflex. Common symptoms of retinoblastoma include strabismus and proptosis. The clinical presentation depends on the stage of the disease.
History and Symptoms
History
- History of a patient with retinoblastoma may include the:[1]
- Perinatal history of:
- Personal history of:
- Family history of:
Symptoms
- Clinical features of retinoblatoma are approximately the same in variable studies and the common findings are as follow:[2][3][4]
- Abnormal appearance of the pupil (leukocoria, also known as amaurotic cat's eye reflex)
- Deviation of the eye to one side (strabismus) (especially when the macula is involved)
- Decreased vision
- Painful red eye
- Loss of vision
- Presenting symptoms in adult onset of the tumor are insidious and can include:[5]
- Advanced and/or metastatic form of the tumor also presents with constitutional symptoms, such as:
- Patients with retinoblastoma may also present with delay in developmental milestones and intellectual disability which may be perceived by their caregivers.[7]
- Intellectual disability may be the result of an accompanying disease or with no clear reason.
- Chromosome 13q14 deletion may cause retinoblastoma and intellectual disability.
- Retinoblastoma has been also reported in a patient with Fragile x syndrome.
References
- ↑ Shields CL, Shields JA, Baez K, Cater JR, De Potter P (February 1994). "Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors". Cancer. 73 (3): 692–8. PMID 8299091.
- ↑ Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L (June 2014). "[Clinical features of retinoblastoma in Tunisia]". J Fr Ophtalmol (in French). 37 (6): 442–8. doi:10.1016/j.jfo.2014.01.009. PMID 24792399.
- ↑ Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M (December 2003). "Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival". Pediatrics. 112 (6 Pt 1): 1248–55. PMID 14654593.
- ↑ Shifa, Jemal Zeberga; Gezmu, Alemayehu Mekonnen (2017). "Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia". Pan African Medical Journal. 28. doi:10.11604/pamj.2017.28.66.11199. ISSN 1937-8688.
- ↑ Khetan, Vikas; Sengupta, Sabyasachi; Pan, Utsab (2016). "Adult onset retinoblastoma". Indian Journal of Ophthalmology. 64 (7): 485. doi:10.4103/0301-4738.190099. ISSN 0301-4738.
- ↑ Image courtesy of Dr. Frank Gaillard Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.